A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8928964



Internal ID14880847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38565489..38565519hg38UCSC Ensembl
Innerchr6:38565501..38565505hg38UCSC Ensembl
Outerchr6:38565475..38565531hg38UCSC Ensembl
chr6:38533265..38533295hg19UCSC Ensembl
Innerchr6:38533277..38533281hg19UCSC Ensembl
Outerchr6:38533251..38533307hg19UCSC Ensembl
chr6:38641243..38641273hg18UCSC Ensembl
Innerchr6:38641255..38641259hg18UCSC Ensembl
Outerchr6:38641229..38641285hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391037
Supporting Variants
SamplesNA19129
Known GenesBTBD9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8928964
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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